Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia

I. Carbone, C. Bruno, F. Sotgia, M. Bado, P. Broda, E. Masetti, A. Panella, F. Zara, F. Dagna Bricarelli, G. Cordone, M. P. Lisanti, Carlo Minetti

Research output: Contribution to journalArticle

114 Citations (Scopus)

Abstract

Mutations in the caveolin-3 (CAV3) gene are associated with autosomal dominant limb-girdle muscular dystrophy (LGMD1C). The authors report a novel sporadic mutation in the CAV3 gene in two unrelated children with persistent elevated levels of serum creatine kinase (hyperCKemia) without muscle weakness. Immunohistochemistry and quantitative immunoblot analysis of caveolin-3 showed reduced expression of the protein in muscle fibers. Our data indicate that a partial caveolin-3 deficiency should be considered in the differential diagnosis of idiopathic hyperCKemia.

Original languageEnglish
Pages (from-to)1373-1376
Number of pages4
JournalNeurology
Volume54
Issue number6
Publication statusPublished - Mar 28 2000

Fingerprint

Caveolin 3
Mutation
Genes
Limb-Girdle Muscular Dystrophies
Muscle Proteins
Muscle Weakness
Creatine Kinase
Differential Diagnosis
Immunohistochemistry
Serum

Keywords

  • CAV3 gene HyperCKemia
  • Caveolin-3

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Carbone, I., Bruno, C., Sotgia, F., Bado, M., Broda, P., Masetti, E., ... Minetti, C. (2000). Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. Neurology, 54(6), 1373-1376.

Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. / Carbone, I.; Bruno, C.; Sotgia, F.; Bado, M.; Broda, P.; Masetti, E.; Panella, A.; Zara, F.; Bricarelli, F. Dagna; Cordone, G.; Lisanti, M. P.; Minetti, Carlo.

In: Neurology, Vol. 54, No. 6, 28.03.2000, p. 1373-1376.

Research output: Contribution to journalArticle

Carbone, I, Bruno, C, Sotgia, F, Bado, M, Broda, P, Masetti, E, Panella, A, Zara, F, Bricarelli, FD, Cordone, G, Lisanti, MP & Minetti, C 2000, 'Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia', Neurology, vol. 54, no. 6, pp. 1373-1376.
Carbone I, Bruno C, Sotgia F, Bado M, Broda P, Masetti E et al. Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. Neurology. 2000 Mar 28;54(6):1373-1376.
Carbone, I. ; Bruno, C. ; Sotgia, F. ; Bado, M. ; Broda, P. ; Masetti, E. ; Panella, A. ; Zara, F. ; Bricarelli, F. Dagna ; Cordone, G. ; Lisanti, M. P. ; Minetti, Carlo. / Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. In: Neurology. 2000 ; Vol. 54, No. 6. pp. 1373-1376.
@article{ff17569a11cb4c0d8645ecef74ecc560,
title = "Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia",
abstract = "Mutations in the caveolin-3 (CAV3) gene are associated with autosomal dominant limb-girdle muscular dystrophy (LGMD1C). The authors report a novel sporadic mutation in the CAV3 gene in two unrelated children with persistent elevated levels of serum creatine kinase (hyperCKemia) without muscle weakness. Immunohistochemistry and quantitative immunoblot analysis of caveolin-3 showed reduced expression of the protein in muscle fibers. Our data indicate that a partial caveolin-3 deficiency should be considered in the differential diagnosis of idiopathic hyperCKemia.",
keywords = "CAV3 gene HyperCKemia, Caveolin-3",
author = "I. Carbone and C. Bruno and F. Sotgia and M. Bado and P. Broda and E. Masetti and A. Panella and F. Zara and Bricarelli, {F. Dagna} and G. Cordone and Lisanti, {M. P.} and Carlo Minetti",
year = "2000",
month = "3",
day = "28",
language = "English",
volume = "54",
pages = "1373--1376",
journal = "Neurology",
issn = "0028-3878",
publisher = "Lippincott Williams and Wilkins",
number = "6",

}

TY - JOUR

T1 - Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia

AU - Carbone, I.

AU - Bruno, C.

AU - Sotgia, F.

AU - Bado, M.

AU - Broda, P.

AU - Masetti, E.

AU - Panella, A.

AU - Zara, F.

AU - Bricarelli, F. Dagna

AU - Cordone, G.

AU - Lisanti, M. P.

AU - Minetti, Carlo

PY - 2000/3/28

Y1 - 2000/3/28

N2 - Mutations in the caveolin-3 (CAV3) gene are associated with autosomal dominant limb-girdle muscular dystrophy (LGMD1C). The authors report a novel sporadic mutation in the CAV3 gene in two unrelated children with persistent elevated levels of serum creatine kinase (hyperCKemia) without muscle weakness. Immunohistochemistry and quantitative immunoblot analysis of caveolin-3 showed reduced expression of the protein in muscle fibers. Our data indicate that a partial caveolin-3 deficiency should be considered in the differential diagnosis of idiopathic hyperCKemia.

AB - Mutations in the caveolin-3 (CAV3) gene are associated with autosomal dominant limb-girdle muscular dystrophy (LGMD1C). The authors report a novel sporadic mutation in the CAV3 gene in two unrelated children with persistent elevated levels of serum creatine kinase (hyperCKemia) without muscle weakness. Immunohistochemistry and quantitative immunoblot analysis of caveolin-3 showed reduced expression of the protein in muscle fibers. Our data indicate that a partial caveolin-3 deficiency should be considered in the differential diagnosis of idiopathic hyperCKemia.

KW - CAV3 gene HyperCKemia

KW - Caveolin-3

UR - http://www.scopus.com/inward/record.url?scp=17044449846&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=17044449846&partnerID=8YFLogxK

M3 - Article

VL - 54

SP - 1373

EP - 1376

JO - Neurology

JF - Neurology

SN - 0028-3878

IS - 6

ER -